Yasuo Sugiura
Department of Orthopaedic Surgery, Nagoya University School of Medicine, Nagoya 466
Dear Tim,
Thank you for your Email. Following is the text file of paper your asked.
You may get another information about Poland's syndrome through OMIM
(Online Mendelian Inheritance in Man) Home Page. Its URL is:
http://www3.ncbi.nlm.nih.gov/Omim/
Please check yourself at this page.
With best wishes,
Kohji A. Matsui
===================
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Cong. Anom. 16 (1): 17-28, 1976
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Yasuo Sugiura
Department of Orthopaedic Surgery, Nagoya University School of Medicine, Nagoya 466
In 1841, Pland (22) described for the first time a cadaver which
showed syndactyly, lack of the middle phalanges, lack of the pectoralis
major and minor muscles, and the maldevelopment of the abdominal external
oblique and serratus anterior muscles limited in one side of the body. In
1921, Pol (21) collected 20 cases of the combined anomaly of shortening and
webbing of the unilateral fingers and aplasia of the ipsilateral pectoralis
muscle from the literature, and defined this symptom complex as
"Synbrachydaktylie und Brustwanddefekt". This combined anomaly of
unilateral webbed fingers and the absence of the sterno-costal portion of
ipsilateral pectoralis major muscle is recently known as Poland's anomaly
(8), Poland's syndactyly (6, 7, 11) or Poland's syndrome (1, 3, 4, 6, 12,
18, 20, 23, 30) but the definition of the syndrome remains somewhat
obscure.
The author has observed 45 cases of Poland's syndome in the past 20
years, and will describe in detail the clinical and roentgenographic
findings of those patients. In addition, the author has tried to formulate
a more precise definition of this syndrome and to classify it into four
types.
--------------------------------
DEFINITION OF POLAND'S SYNDROME
--------------------------------
Prior to the description of clinical and roentgenographic findings,
the author would like to offer a precise definition to this syndrome.
According to the descriptions of Poland's syndrome by many authors, the
definition of this syndrome clearly has not yet been unified. After
studying the previous description and after making careful observations of
his own cases, the author proposes the following definiton. 1) Unilateral
brachymesophalangy of the index, middle and ring fingers (or occasionally
more severe reduction malformaiton of the hand). 2) Cutaneous syndactyly
in the affected digits (symbrachydactyly). 3) Moderate microhand. 4)
Absence of the sterno-costal portion of the ipsilateral pectoralis major
muscle.
-------------------------------------------------------
CLINICAL AND ROENTGENOGRAPHIC FINDINGS OF 45 PATIENTS
-------------------------------------------------------
Forty-five patients with Poland's syndrome, using the above
definition, were examined by the author at the Department of Orthopaedic
Surgery Nagoya University School of Medicine during the period 1959-1975.
There were 34 males and 11 females in all. The ratio was 3:1. In 30
patients, the right side was affected and in 15 patients, the left side.
This ratio was 2:1. All cases were sporadic. These patients could be
classified into four types on the basis of the degree of malformation of
the hand determined by clinical and roentgenographic findings (Table 1).
Table 1 Poland's syndrome (1956 - 1975)
Type Male Female Total right Left Total
1) Brachymesophalangeal triphalangy type 10 4 14
10 4 14
2) Diphalangy type 17 6 23 14 9 23
3) Monophalangy type 4 0 4 3 1 4
4)Ectrodactyly type 3 1 4 3 1 4
----------------------------------------------------------
Total 34 11 45 30 15 45
1) Brachymesophalangeal triphalangy type
**********************************
In this type, only slight or moderate shortening of the middle
phalanges (brachymesophalangy) of the index, middle, and ring fingers was
seen. Mobility of the proximal and distal interphalangeal joints was
usually in the normal range showing normal triphalangeal finger function.
Proximal and distal fnger creases were also maintained in normal condition.
In severe cases, mobility of the distal interphalangeal joints was
impaired to a certain degree and the distal finger creases were diminished
in the affected fingers. Premature fusion of the epiphysis with the
diaphysis of the middle phalanx was also seen in the affected fingers. In
childhood, a pseudoepiphysis was almost always observed at the distal end
of the 1st metacarpus and also at the proximal end of the 2nd metacarpus.
Web formation among these digits was not marked. Occasionally, a web
extended to the distal interphalangeal joint level. The nails of affected
digits were competely normal. The order of the grade of brachymesophalangy
was almost always as follows: index finger > middle finger > ring finger
>= little finger. the order of the grade of web formation was also almost
always as follows: the web between the index and middle fingers >= one
between middle and ring fingers > one between ring and little fingers. The
thumb was always intact. The affected hand showed a slight microhand
(Figs. 1 a-c).
This type was seen in 10 males and 4 females, about 31.1% of the
patients. In 10 cases, the right side was affected and in 4 cases, the
left side.
2) Diphalangy type
***************
In this type, the shortening of the middle phalanges of the index,
middle, and ring fingers was so marked that each phalanx showed a shape of
the epiphysis of the distal phalanx in childhood presenting an assimilation
diphalangy. The shape of this ossicle varied from a type of true discoid
epiphysis to a larger long oval ossicle. Premature fusion of this ossicle
with the diaphysis of the distal phalanx was also observed on a severly
affected finger. The mobility of the distal interphalangeal joints of the
affected fingers was markedly impaired showing fibrous ankylosis in
extended position and the distal finger creases of affected fingers were
completely diminished (Figs. 2 a-c). In the most serious cases, the
metacarpals of the index and middle fingers were also slightly shortened at
times (Figs. 3 a, b). The order of the grade of assimilation diphalangy
was almost always as follows: index finger >= middle finger > ring finger
>= little finger. Someties, ring and little fingers remained as
brachymesophalangeal triphalangy type. In childhood, a pseudoepiphysis was
almost always observed at the distal end of the 1st metacarpus and also at
the proximal end of the 2nd metacarpus. The degree of syndactyly among
affected digits ranged from the highest grade of syndactyly to a slight web
formation. Even in the cases of the highest grade of syndactyly the tips
of the affected digits were always separated from each other with an
independent nail on each. Web formation between the thumb and index finger
was sometimes observed. The grade of syndactyly was always in the
following order: the syndactyly between the index and middle fingers >=
one between middle and ring fingers >= one between ring and little fingers.
The affected hand was markedly small and the forearm was also shortened.
This type was seen in 17 males and 6 females, or in about 51.1% of
the patients. In 14 cases, the right side was affected and in 9 cases, the
left side.
3) Monophalangy type
******************
In this type, shortening of the index and middle fingers was so
marked that the remaining phalanges of these affected fingers showed a type
of monophalangeal digit. The metacarpals of the index and middle fingers
were also sometimes, shortened. Cutaneous syndactyly was almost always of
the highest degree, but the tips of the affected digits always remained
separated. Independent nails were commonly observed at the top of each
affected finger. There was always web formation between the thumb and
index finger. The order of the grade of shortening was as follows: index
finger = middle finger > ring finger >= little finger. The thumb, and ring
and little fingers were also short but usually diphalangeal (Fgs. 4 a, b).
This type was seen in 4 males. In 3 cases, the right side was
affected and in 1 case, the left side.
4) Ectrodactyly type
*****************
In mild cases of this type, the shortened thumb and little finger
had independent nails on each and were situated at their own position. On
the other hand, the index, middle and ring finger rays were shortened at
the level of the metacarpals and they lacked nails. the metacarpals of the
index, middle, and ring fingers were markedly shortened (Figs. 5 a, b). In
severe cases, the thumb and all fingers were rudimental and the forearm was
also markedly shortened (Figs. 6 a, b).
This type was seen in 3 males and 1 female. In 3 cases, the right
side was affected and in 1 case, the left side.
Abnormalities of the chest wall
**************************
All cases showed total aplasia of the sterno-costal portion of the
ipsilateral pectoralis major muscle. How often the pectoralis minor muscle
was involved, however, remained unknown because of the difficulty in
examining this muscle. The range of mobility and the strength of muscle
power of the ipsilateral shoulder joint invariably remained normal. The
nipple of the affected side was almost always more or less hypoplastic, but
aplasia of the nipple was not observed in any case. Marked hypoplasia of
the ipsilateral breast was observed in two females (Fig. 7). Hypoplasia of
the 3rd and 4th ribs was observed in two cases. Ipsilateral axillary web
formation was noted in one case. The grade of malformation of the hand was
not related to that of the chest wall.
------------
DISCUSSION
------------
* On the definition and classification:
The author found 124 cases of this syndrome in the literature. In
82 of these cases, there were data sufficient to permit a comparative
study. The ratio of males to females was 58:24. The defect was on the
right side in 52 patients out of 82.
The validity of the definition and classification of Poland;s
syndrome proposed by the author appears to be confirmed by the fact that
every case of this syndrome reported in the past satisfied the author's
definition and could be smoothly classified into some one of the four
types. Most of the cases reported in the past were classified into
brachymesophalangeal triphalangy type or diphalangy type. Typical
triphalangy type was seen in Anger's (1) and Poznanski's (23) cases.
Typical diphalangy type was seen in Gordon's case (12). Typical
monophalangy type was seen in Poznanski's case and typical ectrodactyly
type was seen in Brooksaler and Gravier's (4), Hibizawa's (15), Kiso's
(17), Mace's (18), Tsukimura and Fujikawa's (29), and Walker et al.'s (30)
cases.
* On incidence:
Chautard and Freire-Maia (6) reported in 1971 that two male
patients with Poland's syndrome have been found in a sample of nearly
60,000 birth ascertained through a home-to-home survey in Central Brazil.
Thus, they estimated the approximate incidence as 1:30,000. The author has
found one male patient with Poland's Syndrome (27) among 17,213 school
children by a health survery. So the approximate incidence of this
syndrome would be estimated as 1:20,000-30,000.
* On pathogenesis:
In embryology, the digits but out separately from the hand mass
growing at a faster rate than the rest of the hand during the 5th to 6th
week. In the 6th week, the cartilage of the proximal phalanges and
metacarpals are seen. In the 7th week, the digits are formed separately
from each other with noticeable webs between them. On the other hand, the
undifferentiated mesenchyme cell of the limb bud which will form the
pectoral muscles is located in the lower cervical region of the embryo at 6
weeks. This mass extends lower over the distal rib ends as it develops.
In the 7-week-old embryo, the clavicular portion of the pectoralis major
muscle splits off and the remainder further separates into the sternal
porition of the pectoralis major muscle and the pectoralis minor muscle
(13, 19, 30). Based on these embryologic findings, it may be possible to
expect that combined anomalies of the respective organs can be developed if
some genetic or fetal environmental factor happends to interfere with
differentiation of the organ at the same critical period of development.
David (8) reported that there was a high incidence of attempted
abortion in mothers of patients with Poland's syndrome in their early stage
of pregnancy. In the present study, however, no past history of attempted
abortion by the mother was found in any case.
----------
SUMMARY
----------
Forty-five cases of Poland's syndrome of the author's own
experience were classified into four types depending on the grade of the
malformation determined by clinical and roentgenographic findings. 1)
Brachymesophalangeal triphalangy type was seen in 14 cases, 2) diphalangy
type, in 23 cases, 3) monophalangy type, in 4 cases and 4) ectrodactyly
type, in 4 cases. There were 34 males and 11 females in all. Thirty
patients were affected on their right side and 15, on their left. All
cases were sporadic.
------------
REFERENCES
------------
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483-485, 1969
2) Barsky, A. J.: Congenital Anomalies of the Hand and Their Surgical
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Symbrachydaktylie. Hand-chirurgie, 3: 121-171, 1973
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Child., 121: 263-264, 1971
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deformity. Plast. Reconst. Surg., 46: 236-240, 1970
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month. Amer. J. Dis. Child., 110: 85, 1965
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569-572, 1969
==========================
Kohji A. MATSUI, MD
Dept. Anatomy, Hiroshima Univ. Sch. Med.
1-2-3 Kasumi, Minami-ku, Hiroshima 734, JAPAN
Phone: +81-82-257-5112
Fax: +81-82-257-5114